Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

Neurogenetics

Volumn 10, Issue 2, 2009, Pages 97-104

  Schüle, Rebecca ^a   Brandt, Elisabeth ^b   Karle, Kathrin N ^a   Tsaousidou, Maria ^c   Klebe, Stephan ^d   Klimpe, Sven ^e   Auer Grumbach, Michaela ^f   Crosby, Andrew H ^c   Hübner, Christian A ^b   Schöls, Ludger ^a   Deufel, Thomas ^b   Beetz, Christian ^b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

^f MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

CYP7B1; Hereditary spastic paraplegia; Polymorphism; SPG5

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 7B1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CEREBELLUM DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYP7B1 GENE; DOMINANT INHERITANCE; GENE; GENE SEQUENCE; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; DNA MUTATIONAL ANALYSIS; HAPLOTYPES; HUMANS; INFANT; MIDDLE AGED; POLYMORPHISM, GENETIC; SPASTIC PARAPLEGIA, HEREDITARY; STEROID HYDROXYLASES; YOUNG ADULT;

EID: 64149091321     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0158-9     Document Type: Article

References (22)

1. JK Fink 2006 Hereditary spastic paraplegia Curr Neurol Neurosci Rep 6 65 76
2. C Depienne G Stevanin A Brice A Durr 2007 Hereditary spastic paraplegias: an update Curr Opin Neurol 20 674 680
3. MK Tsaousidou K Ouahchi TT Warner Y Yang MA Simpson NG Laing PA Wilkinson RE Madrid H Patel F Hentati MA Patton A Hentati PJ Lamont T Siddique AH Crosby 2008 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration Am J Hum Genet 82 510 515
4. S Hanein E Martin A Boukhris P Byrne C Goizet A Hamri A Benomar A Lossos P Denora J Fernandez N Elleuch S Forlani A Durr I Feki M Hutchinson FM Santorelli C Mhiri A Brice G Stevanin 2008 Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome Am J Hum Genet 82 992 1002
5. G Casari M De Fusco S Ciarmatori M Zeviani M Mora P Fernandez G De Michele A Filla S Cocozza R Marconi A Durr B Fontaine A Ballabio 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease Cell 93 973 983
6. N Fonknechten D Mavel P Byrne CS Davoine C Cruaud D Bonsch D Samson P Coutinho M Hutchinson P McMonagle JM Burgunder A Tartaglione O Heinzlef I Feki T Deufel N Parfrey A Brice B Fontaine JF Prud'homme J Weissenbach A Durr J Hazan 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia Hum Mol Genet 9 637 644
7. SM Sauter W Engel LM Neumann J Kunze J Neesen 2004 Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus Hum Mutat 23 98
8. C Beetz R Schule T Deconinck KN Tran-Viet H Zhu BP Kremer SG Frints WA van Zelst-Stams P Byrne S Otto AO Nygren J Baets K Smets B Ceulemans B Dan N Nagan J Kassubek S Klimpe T Klopstock H Stolze HJ Smeets CT Schrander-Stumpel M Hutchinson BP van de Warrenburg C Braastad T Deufel M Pericak-Vance L Schols P de Jonghe S Zuchner 2008 REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 Brain 131 1078 1086
9. A Hentati MA Pericak-Vance WY Hung S Belal N Laing RM Boustany F Hentati M Ben Hamida T Siddique 1994 Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity Hum Mol Genet 3 1263 1267
10. S Klebe A Durr N Bouslam D Grid C Paternotte C Depienne S Hanein A Bouhouche N Elleuch H Azzedine S Poea-Guyon S Forlani E Denis C Charon J Hazan A Brice G Stevanin 2007 Spastic paraplegia 5: locus refinement, candidate gene analysis and clinical description Am J Med Genet B Neuropsychiatr Genet 144B 854 861
11. P Coutinho J Barros R Zemmouri J Guimaraes C Alves R Chorao E Lourenco P Ribeiro JL Loureiro JV Santos A Hamri C Paternotte J Hazan MC Silva JF Prud'homme D Grid 1999 Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families Arch Neurol 56 943 949
12. PA Wilkinson AH Crosby C Turner H Patel NW Wood AH Schapira TT Warner 2003 A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia Neurology 61 235 238
13. M Muglia C Criscuolo A Magariello G De Michele V Scarano P D'Adamo G Ambrosio AL Gabriele A Patitucci R Mazzei FL Conforti T Sprovieri L Morgante A Epifanio P La Spina P Valentino P Gasparini A Filla A Quattrone 2004 Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus Neurogenetics 5 49 54
14. C Beetz AO Nygren J Schickel M Auer-Grumbach K Burk G Heide J Kassubek S Klimpe T Klopstock F Kreuz S Otto R Schule L Schols AD Sperfeld OW Witte T Deufel 2006 High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia Neurology 67 1926 1930
15. R Schule T Holland-Letz S Klimpe J Kassubek T Klopstock V Mall S Otto B Winner L Schols 2006 The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity Neurology 67 430 434
16. C Beetz R Schule S Klebe S Klimpe T Klopstock A Lacour S Otto AD Sperfeld B van de Warrenburg L Schols T Deufel 2008 Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots J Neurol Sci 268 131 135
17. N Elleuch C Depienne A Benomar AM Hernandez X Ferrer B Fontaine D Grid CM Tallaksen R Zemmouri G Stevanin A Durr A Brice 2006 Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia Neurology 66 654 659
18. A Arnoldi A Tonelli F Crippa G Villani C Pacelli M Sironi U Pozzoli MG D'Angelo G Meola A Martinuzzi C Crimella F Redaelli C Panzeri A Renieri GP Comi AC Turconi N Bresolin MT Bassi 2008 A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia Hum Mutat 29 522 531
19. G Stevanin H Azzedine P Denora A Boukhris M Tazir A Lossos AL Rosa I Lerer A Hamri P Alegria J Loureiro M Tada D Hannequin M Anheim C Goizet V Gonzalez-Martinez I Le Ber S Forlani K Iwabuchi V Meiner G Uyanik AK Erichsen I Feki F Pasquier S Belarbi VT Cruz C Depienne J Truchetto G Garrigues C Tallaksen C Tranchant M Nishizawa J Vale P Coutinho FM Santorelli C Mhiri A Brice A Durr 2008 Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration Brain 131 772 784
20. C Depienne E Fedirko S Forlani C Cazeneuve P Ribai I Feki C Tallaksen K Nguyen B Stankoff M Ruberg G Stevanin A Durr A Brice 2007 Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia J Med Genet 44 281 284
21. S Hanein A Durr P Ribai S Forlani AL Leutenegger I Nelson MC Babron N Elleuch C Depienne C Charon A Brice G Stevanin 2007 A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3 Hum Genet 122 261 273
22. CA Hewamadduma J Kirby C Kershaw J Martindale A Dalton CJ McDermott PJ Shaw 2008 HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier Neurology 70 1717 1718